| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Deletion (inframe_deletion +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Deletion (inframe_deletion +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Schizencephaly +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 | |
| | | Deletion (inframe_deletion +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (nonsense +1 more) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (nonsense) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly 3 | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly 3 | |
| | | Deletion (frameshift variant) | Holoprosencephaly 3 | |
| | | Duplication (frameshift variant) | Holoprosencephaly 3 | |